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Endocrine Abstracts (2015) 39 OC7.6 | DOI: 10.1530/endoabs.39.OC7.6

BSPED2015 ORAL COMMUNICATIONS Oral Communications 7 (6 abstracts)

The evolving phenotype of transient neonatal diabetes 1: findings from the international register

Kemi Lokulo-Sodipe 2 , Rowena S James 2 , N N Zalkapli 2 , Louise E Docherty 2 , Justin H Davies 1 , Deborah J G Mackay 2 & I Karen Temple 2


1University Hospital Southampton NHS Foundation Trust, Southampton, UK; 2University of Southampton Faculty of Medicine, Southampton, UK.


Introduction: Transient neonatal diabetes 1 (TNDM1) has an estimated incidence of 1 in 400 000 and is characterised by intra-uterine growth retardation and diabetes presenting soon after birth. Spontaneous remission of diabetes usually occurs within the first year of life. TNDM1 is caused by overexpression of imprinted genes at chromosome 6q24. Three causes have been described: paternal uniparental disomy for chromosome 6; paternally inherited duplication of 6q24; and maternal hypomethylation at the differentially methylated region at 6q24.

Aim: To document the evolving phenotype in TNDM1 with emphasis on growth, developmental progress, recurrence of diabetes and educational outcomes.

Methods: The international TNDM register includes details at presentation of 210 TNDM1 cases with consent for follow-up provided in 73 patients. Samples were referred to the Wessex Clinical Genetics Service or the Molecular Genetics Department at Exeter Clinical Laboratory Service. Confirmed cases were recruited prospectively. Follow-up questionnaires were sent to patients enquiring about: height, weight, medical problems, current diabetic status, treatment (if relevant), educational achievements and learning difficulties.

Results: Follow-up data were available for 22 patients. 5 (22.7%) had permanent relapse of diabetes and required treatment. In these patients the median age at relapse was 11 years (range 9.2–14 years). BMI SDS range was −0.6–1.1. Seventeen (77.3%) patients did not have diabetes at follow-up. One had experienced transient relapse. Median age at follow-up in this group was 9.2 years (range 3.6–22.3 years). Of the non-diabetic patients, 11 were of appropriate weight, four were overweight, one was obese and one was underweight. Learning difficulties were frequent (10/21 respondents). Significant speech delay was reported in 36% (8/22).

Discussion/conclusion: These data suggest that the recurrence risk of diabetes in TNDM1 is not associated with obesity. Learning difficulties are frequently present and we highlight speech delay as a frequent occurrence.

Volume 39

43rd Meeting of the British Society for Paediatric Endocrinology and Diabetes

British Society for Paediatric Endocrinology and Diabetes 

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